ClinVar Miner

List of variants in gene combination CRYGD, LOC100507443 reported as pathogenic for cataract 4 multiple types

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) rs121909597
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) rs121909596
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) rs398122948
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) rs121909595
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) rs121909598
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) rs28931605

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